Term Name: congenital muscular dystrophy-dystroglycanopathy type A10
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10, MDDGA10, Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
Ontology: Human Disease [DOID:0111239]   ( DOID:0111239 )

Relationships
is a type of: congenital muscular dystrophy-dystroglycanopathy type A